ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic

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Gene type:
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Total variants: 167
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HGVS dbSNP
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs) rs1564568303
NM_000314.7(PTEN):c.-116dup rs1564801388
NM_000314.7(PTEN):c.-60dup rs1564801473
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+1G>C rs786201041
NM_000314.7(PTEN):c.1026+2T>G rs1114167624
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.7(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.7(PTEN):c.113C>G (p.Pro38Arg) rs1064796886
NM_000314.7(PTEN):c.1212A>G (p.Ter404Trp) rs876660879
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.7(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.7(PTEN):c.165-17_165del rs1554897240
NM_000314.7(PTEN):c.165-1G>A rs786203847
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.7(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.7(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.7(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.202T>G (p.Tyr68Asp) rs398123317
NM_000314.7(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.7(PTEN):c.209+1G>T rs1554897280
NM_000314.7(PTEN):c.209+2T>A rs878853937
NM_000314.7(PTEN):c.209+2T>C
NM_000314.7(PTEN):c.209+2dup rs1064794925
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.210-1G>C rs1114167621
NM_000314.7(PTEN):c.210-1G>T rs1114167621
NM_000314.7(PTEN):c.210-2A>G rs1564828914
NM_000314.7(PTEN):c.210-6_210-2del rs1564828909
NM_000314.7(PTEN):c.226del (p.Tyr76fs) rs1564828960
NM_000314.7(PTEN):c.242T>G (p.Phe81Cys) rs876661177
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.254-1G>A rs1057520208
NM_000314.7(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.7(PTEN):c.275A>G (p.Asp92Gly)
NM_000314.7(PTEN):c.277C>A (p.His93Asn) rs786204927
NM_000314.7(PTEN):c.277C>T (p.His93Tyr)
NM_000314.7(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.7(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.7(PTEN):c.308_309del (p.Pro103fs) rs1554898088
NM_000314.7(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.7(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.7(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.7(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.7(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.7(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.7(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.7(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.7(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.7(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.7(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.7(PTEN):c.401T>G (p.Met134Arg) rs1085308046
NM_000314.7(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.7(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.7(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.7(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.7(PTEN):c.46T>G (p.Tyr16Asp) rs1064796078
NM_000314.7(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.7(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.7(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.7(PTEN):c.479C>T (p.Thr160Ile) rs1554898225
NM_000314.7(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.7(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.492+2del rs1060500124
NM_000314.7(PTEN):c.493-1G>A rs786204862
NM_000314.7(PTEN):c.493-2A>C rs587781784
NM_000314.7(PTEN):c.493-2A>T rs587781784
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.7(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.7(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000314.7(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.7(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-1G>T rs876661024
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.7(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.7(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.7(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.7(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.7(PTEN):c.738_743del (p.Leu247_Pro248del) rs1114167666
NM_000314.7(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.7(PTEN):c.752_753delinsTG (p.Gly251Val) rs1114167664
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.7(PTEN):c.761_765del (p.Lys254fs) rs606231169
NM_000314.7(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000314.7(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.7(PTEN):c.80-1G>C rs786204914
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.802-4_804delinsA rs1064792911
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.7(PTEN):c.865A>G (p.Lys289Glu) rs562015640
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.884_900delinsG (p.Leu295fs) rs1114167680
NM_000314.7(PTEN):c.942_943AT[1] (p.Tyr315fs) rs1064796128
NM_000314.7(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.7(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_001304717.5(PTEN):c.1012+1_1012+5del rs1554898238
NM_001304717.5(PTEN):c.1321+1del rs1060500110
NM_001304717.5(PTEN):c.1322-1G>A
NM_001304717.5(PTEN):c.773+1dup rs876660082
NM_001304718.2(PTEN):c.-310_-309delinsA rs1114167641
NM_001304718.2(PTEN):c.-481dup rs1114167678
NM_001304718.2(PTEN):c.-549_-547GTA[1] rs1554893831
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001304718.2(PTEN):c.-667_-665del rs1114167625

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